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Comment by patdennis | Hacker News Reader

For $50, I had 23andme read my genotype for a pretty significant number of already studied genes, but far from my complete genome.

How much of a difference does it make to the end user whether their complete genome is sequenced, compared to 23andme's model?

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It doesn't make a whole lot of difference at the moment; at present the main utility is related to genealogy rather than health, which the current genotyping chips are adequate for. Until our ability to interpret whole genomes progresses beyond its current rudimentary level, there isn't much more for you to get excited about.

In any case, you just have to wait a few more years and you'll be able to get (the non-junk bits of) your genome sequenced for close to $50 anyway.

23andme is babyish relative to what's coming. Even exome sequencing does not provide the whole story. There are so many conditionals, so many sequences important in regulation, so much of the "dark" genome that actually codes for RNA. Sure, some SNPs are highly predictive, but there are compensatory mutations and regulatory gene circuits. Everything works together and must be weighed together. Even with whole genome we still need epigenetics and we need time-lapse data and sampled location specific (cell and organ system) genomic data to really produce clinically relevant predictions.

Interpretation is an indefinite field - statisticians and econometricians will be highly valued.

We hope as more data becomes available, the field will become more and more definite. We will use indefinite mathematics in genomic interpretation until we have near perfect information.

I can't find the reference but micro-RNA as short as two base pairs has been shown to affect gene expression. Nonlinearity may seriously inhibit meaningful analysis.

Some interesting structural differences are not captured by 23andMe nor even with technology like Ion Torrent, for example repeat sequences related to ALS, Huntington's, etc. To get the full picture ultimately you'll need a full sequence with longer read lengths to span the structural variants, and you'll also want the methylation/epigenetic markers which convey which genes are turned on or turned off. Just knowing you have the gene doesn't mean nearly as much without knowing if it is turned on!

There's a lot of differences, especially because 23andme just checks the "different" nucleotides for some specific genes. Having your full genome sequenced would mean that we would know every single nucleotide from you, so things we still don't know are important might become vital in the future.

"Having your full genome sequenced would mean that we would know every single nucleotide from you"

Unless he's a genetic mosaic, also known as the "reality is hard to squeeze into our all too simplistic data model" problem.

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